HAEMATOLOGICAL INVESTIGATIONS
11.1 For each of the following patients, select the most likely
finding from the analysis of ...
Answers to 11.1
1. B. Lymphocytosis. Many viral infections, including infectious
mononucleosis, cause a lymphocytosis.
2. ...
ANAEMIA
11.2 For each of the following patients, select the most likely cause
of their anaemia.
A Aplastic anaemia
B Folic...
Answers to 11.2
1. A. Aplastic anaemia. This patient's pancytopenia suggests
marrow failure (aplastic anaemia). A haemorrh...
HAEM AND RED CELL ABNORMALITIES
11.3 For each of the following patients with a defect in haem
production or erythrocyte me...
Answers to 11.3
1. A. Acute intermittent porphyria. This is an autosomal
dominant disorder but with incomplete penetrance,...
HAEMATOLOGICAL MALIGNANCIES
11.4 For each of the following patients, select the most likely
diagnosis.
A Acute lymphocytic...
Answers to 11.4
1. B. Acute myeloblastic leukaemia. The patient is relatively
young with quite a short history, making an ...
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Haematology

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Haematology

  1. 1. HAEMATOLOGICAL INVESTIGATIONS 11.1 For each of the following patients, select the most likely finding from the analysis of the peripheral blood. A Anaemia B Lymphocytosis C Lymphopenia D Neutropenia E Neutrophilia F Pancytopenia G Polycythaemia H Reticulocytosis I Thrombocytopenia J Thrombocytosis 1. A patient with infectious mononucleosis. 2. A patient who has just started treatment with B12 and folate for megaloblastic anaemia. 3. A patient with chronic renal failure. 4. A patient with chronic obstructive pulmonary disease. 5. A patient with disseminated intravascular coagulation. 267 11 Haematology Ch11-F10376.qxd 12/19/06 4:57 PM Page 267
  2. 2. Answers to 11.1 1. B. Lymphocytosis. Many viral infections, including infectious mononucleosis, cause a lymphocytosis. 2. H. Reticulocytosis. The administration of haematinics results in a brisk increase in erythropoiesis with a transient rise in the peripheral blood reticulocyte count. 3. A. Anaemia. There are several mechanisms that may result in anaemia in patients with chronic renal failure, the most important being a reduced production of erythropoietin. Other mechanisms include iron deficiency due to blood loss from the gastrointestinal or genitourinary tracts, folate loss into the dialysate and shortened red cell survival. 4. G. Polycythaemia. Chronic hypoxia stimulates the production of erythropoietin causing an increase in the red cell mass. 5. I. Thrombocytopenia. The intravascular coagulation depletes peripheral blood of platelets. 11 Answers11.1 Extended-Matching Questions for Finals 268 Ch11-F10376.qxd 12/19/06 4:57 PM Page 268
  3. 3. ANAEMIA 11.2 For each of the following patients, select the most likely cause of their anaemia. A Aplastic anaemia B Folic acid deficiency C Iron deficiency D Multiple myelomatosis E Myelofibrosis F Peptic ulcer disease G Pernicious anaemia H Rheumatoid arthritis I Vitamin B12 deficiency J Vitamin C deficiency 1. A 60-year-old woman with a history of thyrotoxicosis complains of easy bruising and recurrent blood blisters in her mouth. Her white cell count is 2 × 109 /L, platelets 20 × 109 /L and the haemoglobin is 6 g/dL. 2. A 35-year-old woman with irregular periods complains of fatigue. Investigations show that she has a haemoglobin of 8 g/dL with a low mean corpuscular volume and a low mean corpuscular haemoglobin concentration. Gastroscopy is normal. 3. A 65-year-old man complains of low back pain and fatigue. He has a haemoglobin of 9 g/dL with a normal mean corpuscular volume and mean corpuscular haemoglobin concentration. His ESR is 120 mm/h. 4. A 70-year-old woman has stiffness, pain and swelling of her wrists and knees. She also complains of fatigue and easy bruising. She has a haemoglobin of 9 g/dL with a normal mean corpuscular volume and mean corpuscular haemoglobin concentration. Her ESR is 80 mm/h. 5. A 38-year-old woman who had a resection of her terminal ileum for Crohn's disease 6 years ago presents with breathlessness and fatigue. She has a megaloblastic anaemia with a haemoglobin concentration of 7 g/dL. Question11.2 269 11Haematology Ch11-F10376.qxd 12/19/06 4:57 PM Page 269
  4. 4. Answers to 11.2 1. A. Aplastic anaemia. This patient's pancytopenia suggests marrow failure (aplastic anaemia). A haemorrhagic tendency is the most common presentation of this disorder. In about half the cases, a history of exposure to an incriminating agent may be forthcoming. The history of thyrotoxicosis was relevant in that this woman was taking carbimazole. 2. C. Iron deficiency. This patient's irregular periods are probably caused by menorrhagia resulting in excessive blood loss and iron deficiency anaemia. The low mean corpuscular volume and mean corpuscular haemoglobin concentration are in keeping with that diagnosis. 3. D. Multiple myelomatosis. The low back pain is a key symptom and the high ESR a key sign suggestive of myelomatosis in this patient. The former is caused by vertebral fracture resulting from bone destruction due to the lytic myeloma lesions. The anaemia is caused by the infiltration of the bone marrow. 4. H. Rheumatoid arthritis. The stiffness and swelling of the wrists and knees are suggestive of this diagnosis. The accompanying anaemia is usually normocytic and normochromic. 5. I. Vitamin B12 deficiency. This vitamin, essential for the further progression of the megaloblasts, is absorbed in the terminal ileum. The loss of this area for 6 years has caused vitamin B12 deficiency leading to megaloblastic anaemia. Pernicious anaemia is the term applied to B12 deficiency specifically due to an autoimmune destruction on the intrinsic factor producing cells in the stomach. 11 Answers11.2 Extended-Matching Questions for Finals 270 Ch11-F10376.qxd 12/19/06 4:57 PM Page 270
  5. 5. HAEM AND RED CELL ABNORMALITIES 11.3 For each of the following patients with a defect in haem production or erythrocyte metabolism, select the most likely diagnosis. A Acute intermittent porphyria B Autoimmune haemolytic anaemia C β-thalassaemia D Congenital erythropoietic porphyria E Erythropoietic protoporphyria F Gilbert's syndrome G Hereditary coproporphyria H Hereditary spherocytosis I Porphyria cutanea tarda J Variegate porphyria 1. A patient presents with episodes of recurrent severe abdominal pain. On examination, she is found to have a peripheral sensory polyneuropathy and hypertension. Investigations confirm a defect of porphobilinogen synthase. 2. A patient complains of recurrent episodes of acute bullous eruptions of the skin, especially in the summer months. A defect of protoporphyrinogen oxidase is present. 3. A patient complains of recurrent skin eruptions on light- exposed areas that have led to scarring. The nails are also affected and there is a history of episodic confusion and sensory symptoms. There is a defect in coproporphyrinogen oxidase. 4. A patient is noted to have a bilirubin raised at twice the upper limit of normal during an upper respiratory tract infection. All the other liver function tests are within normal limits. He tells you that other doctors have told him about this in the past and that he should not worry about it. 5. An elderly patient is admitted by her general practitioner, complaining of shortness of breath. On examination, she looks pale, is mildly jaundiced and has moderate splenomegaly. Investigations include a haemoglobin of 5.6 and a positive Coombs' test. Question11.3 271 11Haematology Ch11-F10376.qxd 12/19/06 4:57 PM Page 271
  6. 6. Answers to 11.3 1. A. Acute intermittent porphyria. This is an autosomal dominant disorder but with incomplete penetrance, so other family members with the condition may never have symptoms. Attacks may be precipitated by a large number of drugs and alcohol (P450 enzyme inducers). During an acute attack, the urine turns dark on standing due to the high concentrations of ALA and PBG. The levels remain moderately raised between attacks. 2. J. Variegate porphyria. This is also an autosomal dominant disorder. Cutaneous fragility and photosensitivity are important features. Acute neurological attacks are common. 3. G. Hereditary coproporphyria. This is an autosomal recessive disorder. The uroporphyrinogen synthetase defect is expressed in erythrocytes and there are raised porphyrin levels in stool samples. In addition to acute neurological attacks, about 30% of patients experience cutaneous manifestations. 4. F. Gilbert's syndrome. The inheritance is thought to be autosomal dominant in this common condition, occurring in about 7% of the population. There is a modest increase in unconjugated bilirubin due to a decreased hepatic UDP- glucuronyl-transferase activity. Fasting characteristically increases the serum bilirubin level and is useful in making the diagnosis. 5. B. Autoimmune haemolytic anaemia. The jaundice is due to the raised bilirubin from increased red cell destruction. The enlarged spleen is the site of much of the red cell destruction. 11 Answers11.3 Extended-Matching Questions for Finals 272 Ch11-F10376.qxd 12/19/06 4:57 PM Page 272
  7. 7. HAEMATOLOGICAL MALIGNANCIES 11.4 For each of the following patients, select the most likely diagnosis. A Acute lymphocytic leukaemia B Acute myeloblastic leukaemia C Chronic lymphocytic leukaemia D Chronic myeloid leukaemia E Essential thrombocythaemia F Hodgkin's lymphoma G Monoclonal gammopathy of uncertain significance H Multiple myeloma I Myelofibrosis J Non-Hodgkin's lymphoma 1. A 30-year-old man presents with a 1-month history of lethargy, malaise and shortness of breath. On examination, he is pale and has bruising on his skin. His haemoglobin is 8.0 g/dL, white cell count 89 × 109 /L, platelet count 40 × 109 /L. A marrow biopsy shows >30% blast cells with Auer rods in the cytoplasm. 2. A 58-year-old woman presents with a 6-month history of tiredness, weight loss and abdominal pain. On examination, she is pale, has skin bruising and splenomegaly. Her haemoglobin is 10.5 g/dL, white cell count 118 × 109 /L with immature circulating cells (5% myeloblasts). Polymerase chain reaction analysis of a bone marrow biopsy shows the presence of chimeric Abelson- BCR gene. 3. A 69-year-old man is seen at a routine pre-surgery clinic prior to a hernia repair. On examination, there are no untoward physical findings apart from the hernia. His haemoglobin is 9.8 g/dL, white cell count 30 × 109 /L, platelet count 300 × 109 /L. A review of his old medical notes reveals that 5 years ago his haemoglobin was 10.3 g/dL, white cell count 18 × 109 /L and platelet count 350 × 109 /L. Bone marrow aspirate shows an increased number of B cell precursors. 4. A 25-year-old man is seen in the clinic with a 2-month history of painless lymphadenopathy in the neck. His full blood count is normal but his ESR is 80 mm/h. A biopsy is reported as showing Reed–Sternberg cells in the lymph node. 5. An 80-year-old man is admitted to hospital following a stroke. His full blood count, urea and electrolytes are normal. He has a marginally raised serum protein and electrophoresis shows a monoclonal band. Bone marrow aspirate shows 5% plasma cells. Question11.4 273 11Haematology Ch11-F10376.qxd 12/19/06 4:57 PM Page 273
  8. 8. Answers to 11.4 1. B. Acute myeloblastic leukaemia. The patient is relatively young with quite a short history, making an acute leukaemia more likely than a chronic disease. The marrow shows large numbers of blast cells and the presence of Auer rods. The latter are slender, fusiform cytoplasmic inclusions that stain red with Wright–Giemsa stain and are virtually pathognomonic of acute myeloblastic anaemia. 2. D. Chronic myeloid leukaemia. The splenomegaly associated with this blood picture is highly suggestive of chronic myeloid leukaemia. The Abelson-BCR gene is the molecular equivalent of the Philadelphia chromosome (chromosome 22/9 translocation). The break on chromosome 22 occurs in the 'breakpoint cluster region-BCR' and the fragment of chromosome 9 that joins this area carries the Abelson oncogene. This molecular rearrangement is seen in 90% of patients with chronic myeloid leukaemia. 3. C. Chronic lymphocytic leukaemia. This patient has no symptoms but his peripheral blood count and bone marrow are characteristic of this disorder. 4. F. Hodgkin's lymphoma. Reed–Sternberg cells are characteristic of Hodgkin's lymphoma. 5. G. Monoclonal gammopathy of uncertain significance. There are relatively small numbers of plasma cells in the marrow and the monoclonal band is at low concentration. The patient may progress to develop myeloma or may remain stable for many years. 11 Answers11.4 Extended-Matching Questions for Finals 274 Ch11-F10376.qxd 12/19/06 4:57 PM Page 274

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